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Niemann-Pick type C Disease – the tip of the iceberg?

Posted: 31.10.16

Niemann-Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment:

Summary: Niemann-Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an attenuated adolescent/adult-onset disease. In these patients psychiatric features, often a psychosis, may dominate the initial impression, although often there is an associated ataxia and cognitive impairment. Typically, patients experience a substantial diagnostic delay. In this review we highlight the importance of early recognition and discuss the pathophysiology, neuropsychiatric presentation and recent changes in the investigation and work-up of these patients, and treatment options…

You can download the full article, co-written by NPUK trustee Will Evans,  here. Originally published in BJPsych Bulletin.